Early-onset generalized dystonia

Title

Other Names:

DYT1; Early onset torsion dystonia; EOTD; DYT1; Early onset torsion dystonia; EOTD; Dystonia musculorum deformans 1; Early-onset primary dystonia; Oppenheim's dystonia; Idiopathic dystonia DYT1; Idiopathic torsion dystonia; Dystonia 1, torsion, autosomal dominant; DYT-TOR1A dystonia; Dystonia 1 See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Early-onset generalized dystonia is a neurologic movement disorder that usually begins in childhood or adolescence. This is the most common hereditary form of dystonia.^[1] Symptoms start in one part of the body (usually an arm, foot, or leg) and are usually first apparent with actions such as writing or walking. With time, the contractions may spread to other parts of the body, causing the muscles to twist the body into unnatural positions.^[1]^[2]^[3] Symptoms can vary greatly, even among members of the same family. For some, the disorder can cause significant disability, while others may experiences only isolated writer’s cramp.^[1]^[3] A small deletion in the DYT1 gene is the major cause of early-onset dystonia.^[2]^[3] The genetic change responsible for early onset generalized dystonia is inherited in an autosomal dominant manner, though not everyone who inherits the genetic change will develop the condition. It is thought that only 30% of individuals who inherit the mutation will develop DYT1 dystonia. This is known as reduced penetrance .^[2]^[3] Treatments include oral medications such as trihexyphenidyl, baclofen, and clonazepam. Botulinum toxin injections may be used in conjunction with oral medications when symptoms are focused in a certain area. In some cases, deep brain stimulation may be indicated.^[3]

Last updated: 10/31/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Hypertonia		0001276
30%-79% of people have these symptoms
Abnormality of the voice	Voice abnormality	0001608
1%-4% of people have these symptoms
Incomplete penetrance		0003829
Percent of people who have these symptoms is not available through HPO
Abnormal posturing		0002533
Autosomal dominant inheritance		0000006
Blepharospasm	Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid [ more ]	0000643
Depressivity	Depression	0000716
Dysarthria	Difficulty articulating speech	0001260
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hyperlordosis	Prominent swayback	0003307
Kyphosis	Hunched back Round back [ more ]	0002808
Muscular hypotonia	Low or weak muscle tone	0001252
Scoliosis	Abnormal curving of the spine	0002650
Torsion dystonia		0001304
Torticollis	Wry neck	0000473
Tremor	Tremors	0001337
Writer's cramp		0002356

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Last updated: 11/1/2018

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Botulinum toxin type A (Brand name: Botox) - Manufactured by Allergan, Inc.
FDA-approved indication: Treatment of cervical dystonia in adults to decrease the severity of abnormal head position and neck pain associated with cervical dystonia. Treatment of blepharospasm or strabismus associated with dystonia in adults (patients 12 years of age and above).
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

Tyler's Hope for a Dystonia Cure was established to further research and promote awareness for dystonia. The organization has established a Dystonia International Patient Registry (DIPR) for individuals who carry any of the dystonia gene deletions, especially the DYT1 gene deletion, and their family members.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Early-onset generalized dystonia. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Early-onset generalized dystonia. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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References References

Frucht, Steven. Dystonia. National Organization of Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/dystonia/. Accessed 10/31/2016.
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1. Online Mendelian Inheritance in Man (OMIM). August 9, 2016; http://www.omim.org/entry/128100. Accessed 10/31/2016.
Ozelius, Laurie and Lubarr, Naomi.. DYT1 Early-Onset Primary Dystonia. GeneReviews. January 2, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1492/. Accessed 10/31/2016.

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